A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938523



Internal ID10046677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:83100390..83100684hg38UCSC Ensembl
Outerchr4:84021543..84021837hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727897
Supporting Variants
SamplesSSM022
Known GenesPLAC8
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6938523
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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